Effect of α-gene numbers on phenotype of HbE/β thalassemia patients

Annals of Hematology

Volumn 88, Issue 10, 2009, Pages 1035-1036

  Sharma, Vineeta ^a   Saxena, Renu ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; BETA GLOBULIN;

BLOOD SAMPLING; DISEASE SEVERITY; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENE NUMBER; GENOTYPE; HUMAN; LETTER; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; THALASSEMIA;

ALPHA-GLOBINS; BETA-THALASSEMIA; GENE DOSAGE; HEMOGLOBIN E; HUMANS; PHENOTYPE;

EID: 69249216638     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-009-0723-9     Document Type: Letter

References (11)

1. Weatherall DJ, Clegg JB (1972) The thalassemia syndromes. Blackwell Scientific Publishers, Oxford, England, pp 163-167
2. Swapan Kumar Das, Madhusnata De, Bani Sengupta, Nikhilesh Das, Dilip Kumar Bhattacharya, Geeta Talukder (2002) High incidence of haemoglobin-E in tribal populations of Tripura, North East India. Anthropology Trends Appl 1:105-108
3. Cao A, Galanello R, Rosatelli MC (1994) Genotype-phenotype correlations in B-thalassemias. Blood Rev 8:1-12. doi: 10.1016/0268-960X(94)90002-7
4. Weatherall DJ, Pressley L, Wood WG, Higgs DR, Clegg JB (1981) Molecular basis for mild forms of homozygous B-thalassemia. Lancet 1:527-529
5. Traeger-Synodinos J, Kanavakis E, Vrettou C et al (1996) The triplicated alpha-globin gene locus in beta-thalassaemia heterozygotes: Clinical, haematological, biosynthetic and molecular studies. Br J Haematol 95:467-471. doi: 10.1046/j.1365-2141.1996.d01-1939.x
6. Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ (1991) The spectrum of β-thalassemia mutations on the Indian subcontinent: The basis for prenatal diagnosis. Br J Haematol 78:242-247. doi: 10.1111/ j.1365-2141.1991.tb04423.x
7. Smetanina NS, Huisman TH (1996) Detection of a-thalassemia-2 (-3.7 kb) and its corresponding triplication anti-3.7 kb) by PCR: An improved technical change. Am J Hematol 53:202-203. doi: 10.1002/ (SICI)1096-8652(199611)53:3<202::AID-AJH11>3.0.CO;2-F
8. Chang JG, Lee LS, Lin CP, Chen PH (1991) Rapid diagnosis of a-thalassemia-1 of South-east Asia type and hydrops fetalis by polymerase chain reaction. Blood 78:853-854
9. Shaji RV, Eunice SE, Baidya S, Srivastava A, Chandy M (2003) Determination of the breakpoint and molecular diagnosis of a common a-thalassaemia-1 deletion in the Indian population. Br J Haematol 123:942-947. doi: 10.1046/j.1365-141.2003.04704.x
10. Fucharoen G, Fucharoen S (1994) Rapid and simultaneous nonradioactive method for detecting a-thalassemia 1 (SEA type) and Hb constant spring genes. Eur J Haematol 53:186-187
11. Fucharoen Supan Sanchaisuriya Kanokwan, Fucharoen Goonapa, Panyasai Sittichai, Devenish Robyn, Luy Lyda (2003) Interaction of hemoglobin E and several forms of α-thalassemia in Cambodian family. Hematologica 88(10):1092-1098